ClinVar Miner

List of variants reported as uncertain significance for Congenital contractural arachnodactyly by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)	rs150672907	0.00017
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His)	rs770803581	0.00001

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